Paula and Bobby
Parents of Lillie
Mental Retardation, Autosomal Dominant 31
What is Mental Retardation, Autosomal Dominant 31 syndrome?
It is a rare neurodevelopmental condition. The main symptoms include intellectual disability, severe developmental delay that can present as early as infancy and seizures. Symptoms usually present in affected individuals in infancy.
What gene changes cause Mental Retardation, Autosomal Dominant 31 syndrome?
Mutations in the PURA gene cause the syndrome.
It is inherited in an autosomal dominant pattern.
What are the main symptoms of Mental Retardation, Autosomal Dominant 31 syndrome?
The main symptoms of this are syndrome is intellectual disability and development delay. Adaptive behavior is particularly affected and may be lacking or underdeveloped.
Low muscle tone, in infancy, is also characteristic of the condition.
Seizures are another main symptom of the syndrome, including epilepsy.
How does someone get tested for Mental Retardation, Autosomal Dominant 31 syndrome?
The initial testing for Mental Retardation, Autosomal Dominant 31 syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing
What is FDNA Telehealth?
FDNA Telehealth is a leading digital health company that provides faster access to accurate genetic analysis.
With a hospital technology recommended by leading geneticists, our unique platform connects patients with genetic experts to answer their most pressing questions and clarify any concerns they may have about their symptoms.
Benefits of FDNA Telehealth
Our platform is currently used by over 70% of geneticists and has been used to diagnose over 250,000 patients worldwide.
FDNA Telehealth provides facial analysis and screening in minutes, followed by fast access to genetic counselors and geneticists.
Ease of Use
Our seamless process begins with an initial online diagnosis by a genetic counselor and follows by consultations with geneticists and genetic testing.
Accuracy & Precision
Advanced artificial intelligence (AI) capabilities and technology with a 90% accuracy rate for a more accurate genetic analysis.
Faster access to genetic counselors, geneticists, genetic testing, and a diagnosis. As fast as within 24 hours if required. Save time and money.
Privacy & Security
We guarantee the utmost protection of all images and patient information. Your data is always safe, secure, and encrypted.